Search Results - "BUGIANI, M"

Pathophysiology of respiratory failure in patients with osteogenesis imperfecta: a systematic review by Storoni, S., Treurniet, S., Micha, D., Celli, M., Bugiani, M., van den Aardweg, J. G., Eekhoff, E. M. W.

“…Respiratory failure is a major cause of death in patients with Osteogenesis Imperfecta. Moreover, respiratory symptoms seem to have a dramatic impact on their…”
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Trends in the prevalence of asthma and allergic rhinitis in Italy between 1991 and 2010 by DE MARCO, R, CAPPA, V, CERVERI, I, FOIS, A. G, GIRARDI, P, LOCATELLI, F, MARCON, A, MARINONI, A, PANICO, M. G, PIRINA, P, VILLANI, S, ZANOLIN, M. E, ACCORDINI, S, VERLATO, G, RAVA, M, ANTONICELLI, L, BORTOLAMI, O, BRAGGION, M, BUGIANI, M, CASALI, L, CAZZOLETTI, L

“…The prevalence of asthma increased worldwide until the 1990s, but since then there has been no clear temporal pattern. The present study aimed to assess time…”
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Bergmann glia translocation: a new disease marker for vanishing white matter identifies therapeutic effects of Guanabenz treatment by Dooves, S., Bugiani, M., Wisse, L. E., Abbink, T. E. M., Knaap, M. S., Heine, V. M.

“…Aim Vanishing White Matter (VWM) is a devastating leucoencephalopathy without effective treatment options. Patients have mutations in the EIF2B1‐5 genes,…”
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Heat shock protein expression in cerebral X‐linked adrenoleukodystrophy reveals astrocyte stress prior to myelin loss by Görtz, A. L., Peferoen, L. A. N., Gerritsen, W. H., Noort, J. M., Bugiani, M., Amor, S.

“…Aims X‐linked adrenoleukodystrophy (X‐ALD) is a genetic white matter disorder in which demyelination occurs due to accumulation of very long‐chain fatty acids…”
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Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II by Storoni, S., Celli, L., Breur, M., Micha, D., Verdonk, S. J. E., Maugeri, A., Aardweg, J. G., Riminucci, M., Eekhoff, E. M. W., Bugiani, M.

“…Pulmonary hypoplasia and respiratory failure are primary causes of death in patients with osteogenesis imperfecta (OI) type II. OI is a genetic skeletal…”
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Geo-climatic heterogeneity in self-reported asthma, allergic rhinitis and chronic bronchitis in Italy by Pesce, G., Bugiani, M., Marcon, A., Marchetti, P., Carosso, A., Accordini, S., Antonicelli, L., Cogliani, E., Pirina, P., Pocetta, G., Spinelli, F., Villani, S., de Marco, R.

“…Several studies highlighted a great variability, both between and within countries, in the prevalence of asthma and chronic airways diseases. To evaluate if…”
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Clinical and molecular findings in children with complex I deficiency by Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M.A., Uziel, G., Zeviani, M.

“…Isolated complex I deficiency, the most frequent OXPHOS disorder in infants and children, is genetically heterogeneous. Mutations have been found in seven…”
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Oxidative stress and airway inflammation after allergen challenge evaluated by exhaled breath condensate analysis by Brussino, L., Badiu, I., Sciascia, S., Bugiani, M., Heffler, E., Guida, G., Malinovschi, A., Bucca, C., Rolla, G.

“…Summary Background Allergen exposure may increase airway oxidative stress, which causes lipid membrane peroxidation and an increased formation of…”
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Prognostic factors of asthma severity: A 9-year international prospective cohort study by de Marco, Roberto, Marcon, Alessandro, Jarvis, Deborah, Accordini, Simone, Almar, Enrique, Bugiani, Massimiliano, Carolei, Adriana, Cazzoletti, Lucia, Corsico, Angelo, Gislason, David, Gulsvik, Amund, Jõgi, Rain, Marinoni, Alessandra, Martínez-Moratalla, Jesús, Pin, Isabelle, Janson, Christer

“…The natural history of asthma severity is poorly known. To investigate prognostic factors of asthma severity. All current patients with asthma identified in…”
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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy by BUGIANI, M, AL SHAHWAN, S, LAMANTEA, E, BIZZI, A, BAKHSH, E, MORONI, I, BALESTRINI, M. R, UZIEL, G, ZEVIANI, M

“…Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease…”
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Implementation of a multi-institutional diffuse intrinsic pontine glioma autopsy protocol and characterization of a primary cell culture by Caretti, V., Jansen, M. H. A., van Vuurden, D. G., Lagerweij, T., Bugiani, M., Horsman, I., Wessels, H., van der Valk, P., Cloos, J., Noske, D. P., Vandertop, W. P., Wesseling, P., Wurdinger, T., Hulleman, E., Kaspers, G. J. L.

“…V. Caretti, M. H. A. Jansen, D. G. van Vuurden, T. Lagerweij, M. Bugiani, I. Horsman, H. Wessels, P. van der Valk, J. Cloos, D. P. Noske, W. P. Vandertop, P…”
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The Gene-Environment Interactions in Respiratory Diseases (GEIRD) Project by de Marco, R, Accordini, S, Antonicelli, L, Bellia, V, Bettin, M D, Bombieri, C, Bonifazi, F, Bugiani, M, Carosso, A, Casali, L, Cazzoletti, L, Cerveri, I, Corsico, A G, Ferrari, M, Fois, A G, Lo Cascio, V, Marcon, A, Marinoni, A, Olivieri, M, Perbellini, L, Pignatti, P, Pirina, P, Poli, A, Rolla, G, Trabetti, E, Verlato, G, Villani, S, Zanolin, M E

“…The role of genetic and environmental factors, as well as their interaction, in the natural history of asthma, allergic rhinitis and chronic obstructive…”
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Quality-of-life and asthma-severity in general population asthmatics: results of the ECRHS II study by Siroux, V, Boudier, A, Anto, J.M, Cazzoletti, L, Accordini, S, Alonso, J, Cerveri, I, Corsico, A, Gulsvik, A, Jarvis, D, de Marco, R, Marcon, A, Marques, E.A, Bugiani, M, Janson, C, Leynaert, B, Pin, I

“…Health-related quality-of-life (HRQL) has been poorly studied in large samples of asthmatics from the general population. HRQL and its relationship to…”
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Effect of iron supplementation in women with chronic cough and iron deficiency by Bucca, C, Culla, B, Brussino, L, Ricciardolo, F L, Cicolin, A, Heffler, E, Bugiani, M, Rolla, G

“…Chronic cough is more frequent and severe in women than in men. Women often have decreased iron stores, because of menses and pregnancies. We investigated if…”
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L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? by MORONI, I, BUGIANI, M, D'INCERTI, L, MACCAGNANO, C, RIMOLDI, M, BISSOLA, L, POLLO, B, FINOCCHIARO, G, UZIEL, G

“…L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an…”
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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency by Bugiani, M, Tiranti, V, Farina, L, Uziel, G, Zeviani, M

“…Background: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. Methods:…”
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socio-economic burden of asthma is substantial in Europe by Accordini, S, Corsico, A, Cerveri, I, Gislason, D, Gulsvik, A, Janson, C, Jarvis, D, Marcon, A, Pin, I, Vermeire, P, Almar, E, Bugiani, M, Cazzoletti, L, Duran-Tauleria, E, Jõgi, R, Marinoni, A, Martínez-Moratalla, J, Leynaert, B, de Marco, R

“…Few data are available on the asthma burden in the general population. We evaluated the level and the factors associated with the asthma burden in Europe. In…”
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Allergic rhinitis and asthma comorbidity in a survey of young adults in Italy by Bugiani, M., Carosso, A., Migliore, E., Piccioni, P., Corsico, A., Olivieri, M., Ferrari, M., Pirina, P., De Marco, R.

“…Background:  Several studies have provided evidence of a strong association between asthma and allergic or nonallergic rhinitis, leading to the hypothesis that…”
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Predicting tuberculosis treatment outcome in a low-incidence area by BAUSSANO, I, PIVETTA, E, VIZZINI, L, ABBONA, F, BUGIANI, M

“…SETTING: Based on the cohort of pulmonary tuberculosis (PTB) cases resident between 2001 and 2005 in the Piedmont region of Italy, this study estimated the…”
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A scale to monitor progression and treatment of mitochondrial disease in children by Phoenix, C., Schaefer, A.M., Elson, J.L., Morava, E., Bugiani, M., Uziel, G., Smeitink, J.A., Turnbull, D.M., McFarland, R.

“…Mitochondrial diseases affect all age groups, but those with childhood onset often seem to experience the greatest burden of disability. In some paediatric…”
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